Case Report Osteogenesis Imperfecta dengan Bronchopneumonia

Dr. Erni Desmita1DEPARTMENT OF CHILD HEALTH MOHAMMAD HOESIN HOSPITAL PALEMBANG

Osteogenesis Imperfecta with Bronchopneumoniacase report

INTRODUCTIONOsteogenesis imperfecta (OI) or brittle bone disease is a common congenital abnormality in the formation of collagen tissue that serves as the body's connective tissue and inherited autosomal dominant, generally characterized by bone fragility and a tendency to experience multiple fractures due to minor trauma.Incidence : 1 per 20,000 live birthsDominant gene mutation COL11 (collagen 1 alpha 1), COL12 (collagen 1 alpha 2) and mutation of a recessive gene LEPRE1

IntroductionThe clinical manifestation are bone fragility, bone structure deviation, joint hypermobility, hearing loss, brittleness of teeth, and blue sclera.The diagnosis of osteogenesis imperfecta by radiological examination (rontgen,USG intrauterine, computed tomography (CT Scan), magnetic resonance imaging (MRI), and bone mass densitometry (BMD)).Children with osteogenesis imperfecta and his family will have many complex problems related to these abnormalities, including anatomical problems, medical, limitation of movement, and social.

Introduction..The purpose of this case presentation is to discuss the diagnosis and management of osteogenesis imperfecta with bronchopneumonia

Case A boy, aged 6 months old, body weight 4,3 kg, body length 57 cm, head circumference 42 cm, Admitted in 23rd December, 2013Main complaint : respiratory distress

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PRESENT ILLNESS HISTORYOne week before admission patient had cough, cold, and fever. Patient had not taken any medication, only paracetamol.One day before admission cough became more often, high fever and shortness of breathLahat hospitalRSMH to given bisphosphonate.

Patients has been diagnosed with Osteogenesis imperfecta since 3 months oldbone survey osteogenesis imperfecta suggestive type III planned giving bisphosphonates.No history of any chronic cough No history of cough along with wheezeFamily history :No history of similar complaints in the family. No history of TB contact in the family.

Maternal and birth historyBirth : Assisted by a midwife, delivered spontaneous and cried instantly, birthweight of 2.100 g, APGAR score unknown, injection vitamin K (+)Pregnancy : was a wanted pregnancy. Control regularly at a midwife.During pregnancy no history of smoking, drink of traditional medicine (jamu) (-), alcohol abuse (-).

Immunization : BCG (+), Hepatitis B-0 (+) only Incomplete primary immunizationHistory of Growth and development :Growthno appropriate with chronological ageDevelopmentnot been able to lift his head and to prone positionuntestable on gross motoricHistory of nutritionbrest feeding and formula feedinginadequate quantity and quality

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PHYSICAL EXAMINATION:Alert, full of consciousness patient.Pulse : 128 times/min RR : 60 times/min (regular) Body temperature (arm pit) : 38C Head circumference: 42 cm (normocephali)Nutritional status dan AntropometriB. Weight: 4,3 kg B. Length: 57 cm BW/A= < -3 SD severely underweightBL/A= < -3SD severely stunted BW/BL= -2SD s/d -3SD wasted

Spesific findingHead : triangular-shape face (+), conjungtiva anaemia (+), blue sclera (+)Thorax: Symmetrical, retraction (+) at intercostal and subcostal. Pulmo : increased vesicular breathing, fine wet high pitch crackles (+) wheezing (-) Cor : within normal rangesAbdomen : flat, normal bowel sound, liver and spleen not palpableExtremities : CRT less than 3 minutes, warm, deformities of inferior extremity (+)

Right ArmLeft ArmRight Leg Left LegMovementAdequateAdequateIndequateInadequate Strength5533TonusEutoniEutoniEutoniEutoniClonus(-)(-)Normal reflexes(+)N(+)N(+)N(+)NPathologic reflexesBabinsky (+)

PHYSICAL EXAMINATION:Neurological examination;Motor function:12

SUMMARY OF DATABASE

A six months old male infant with body weight 4,3 kg. Admitted with respiratory distress and planned to be treated with Bisphosphonate.

One week before admission patient had cough, cold, and fever. Patient had not taken any medication, only paracetamol. One day before admission, cough worsen with high fever and shortness of breathLahat hospitalreffered to RSMH for further treatment.13

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Patients had been diagnosed Osteogenesis imperfecta since 3 months oldbone survey osteogenesis imperfecta suggestive type III planned to treated by Bisphosphonate.No history of any chronic cough No history of cough with wheezeNo history of any similar complaints within the family. No history of TB contact within the family.

Initial Problems1. Shortness of breath 2. Fever 3. Osteogenesis imperfecta type III 4. Anemia cause of chronic disease dd / iron deficiency 5. Malnutrition 6. Deviation in gross motor aspect7. Incomplete primary immunization

Working Diagnosis :Bronchopneumonia + Osteogenesis imperfecta type III + Anemia of chronic disease + Malnutrition + Deviation in gross motor aspect + Incomplete primary immunization

Initial Problems and Planning1. Problem 1: bronchopneumonia Dx. P: Routine lab, CRP, thoracal x-ray Tx. P : IVFD D5 NS 6 drops/min (microdrip), oxygen via nasal canule 1 L/min, Ampicillin 3x 150 mg (iv) + Gentamycin 2 x 10 mg (iv), Paracetamol 60 mg (T>38,50C)Ex. P : To explain the parent about cause of the shortness of breath, plan to treat and how long the treatment will be taken, drug side effects, complications and prognosis.2. Osteogenesis imperfecta type III Dx. P :-Tx. P : Bisphosphonate (soon after the shortness of breath relief) and consult to the orthopedic surgeonEx. P : To explain the parent about the disease and examination to be done, complication of the disease.

3. Problem 3: Anemia of chronic disease dd / iron deficiency Dx.P: Laboratory exam blood film, SI, TIBC Tx.P : transfusion PRC 50 cc Ex.P: explanation to the parent about the causes of anemia, the examination will be taken, the treatment, side effect(s) and complication(s).4. Problem 4: Malnutrition Dx.P: Diet Analysis Tx.P: Diet with 500 kcal, 5 g Protein (breast milk 8 x 90 cc) via a nasogastric tube until shortness of breath dissapearEx.P: to explain the parent about their child nutrition status, the treatment, and complication(s)

5. Problem 5 : deviation in gross motor aspectDx.P : Denver II examination Tx.P : Consult to the Medical Rehabilitation physiotherapy when shortness of breath is resolved Ex.P: To explain the parent about developmental delays and treatments. 6. Problem 6 : incomplete primary immunization according to age Dx.P: - Tx.P: Catch-up immunization immunization schedule : Seven months old : DPT - Hep-1 + B-1 + polio (1) Eight months old : DPT + Hep-2-B-2 + polio (2) Nine months old : DPT + Hep-3-B-3 + polio measles (3) Ex.P : To explain the parent about Hepatitis B, DPT, Polio and measles immunizations, their side effects and complications.

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Progress NotesDecember 23th S : shortness of breath (+), fever (+) O :Lab : Hb : 9,1 gr/dl, Ht : 29 vol%, leukosit : 16.600/mm3, trombosit : 525.000/mm3, MCV : 66,1 fL, MCH : 20 pg, MCHC : 31 g/dl, LED : 6 mm/jam, DC : 0/2/1/20/66/10, CRP : 38,50 C)Breastmilk 8 x 90 cc (via NGT)P/ - PRC Transfusion 50 cc - Bisphosphonate (if no shortness of breath)Join treatment between Respirology and Endocrinology sub division

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Progress NoteDecember 24th S : shortness of breath (+), sub febril (+) O :Lab : Ferritin : 145,5 ng/ml, Besi (FE/iron) : 65 g/dl, TIBC : 228 g/dl, Transferin saturation : 28,5% A : Anemia of chronic disease and post PRC transfusionP : Oxygen via nasal canul 1 L/minIVFD D5 NS 5 drops micro/minAmpisilin 3x 140 mg (iv), Gentamycin 2 x 10 mg (iv)Paracetamol 3 x 60 mg (T > 38,50 C)Breastmilk 8 x 90 cc (via NGT)P/Bisphosphonate (if no shortness of breath)

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Progress NoteJanuary 1th S : Shortness of breath (-), fever (-) O : ImprovementA : Bronchopneumonia finishedP : Pamidronate 1 mg /kg/day (0.4 cc) in 50 cc normal saline, admitted in 4 hours (for 3 consecutive day) first day Breastfeeding on demand + F100 4 x 50 cc P / - Routine blood checked - Referred to Endocrinology sub division

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Progress NoteJanuary 3th S : shortness of breath (-), fever (-) O : Lab : Hb : 12,1 gr/dl, Ht : 37 vol%, leukosit : 12.300/mm3, trombosit : 485.000/mm3, LED : 3 mm/jam, DC : 0/2/2/52/36/8, CRP :